by Peter Ciszewski | Nov 15, 2021
Omar Sinno, MD, Medical Lead of Rare Disease at UCB, discusses why seeing the right specialist is crucial for a quick myasthenia gravis (MG) diagnosis. Myasthenia gravis is a chronic autoimmune neuromuscular disease characterized by weakness of the skeletal...
by Peter Ciszewski | Nov 12, 2021
Matthew Klein, MD, MS, FACS, Chief Development Officer at PTC Therapeutics, discusses how the company’s investigational gene therapy, AAV2-hAADC, could impact the aromatic L-amino acid decarboxylase (AADC) deficiency patient population. AADC deficiency is a...
by Peter Ciszewski | Nov 12, 2021
Kevin and Amy Young, parents of a young boy (Jack) who has KAT6A syndrome, provide an overview of the disease. As Mr. and Mrs. Young explain, KAT6A syndrome is an ultra-rare genetic condition caused by a mutation in the KAT6A gene. In most cases this mutation...
by Peter Ciszewski | Nov 11, 2021
Michael Hund, MBA, CEO of Epidermolysis Bullosa Research Partnership (EBRP), talks about the upcoming, 2nd annual Venture into Cures, a digital show featuring a lineup of massive celebrities and stories about EB patients and families. This event will be held...
by Peter Ciszewski | Nov 10, 2021
Alexander Solyom, MD of Aceragen provides an overview of Farber disease, including the clinical features, pathogenesis, and diagnosis. Farber disease is a lysosomal storage disorder due to a deficiency of the enzyme, acid ceramidase. Without appropriate levels...
